Paralogue Annotation for SCN5A residue 1359

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1359
Reference Amino Acid: K - Lysine
Protein Domain: TM Domain 3


Paralogue Variants mapped to SCN5A residue 1359

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AK1372EGeneralized epilepsy with febrile seizures plusHigh9 24257433

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.



SCN5AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<FGRCINQTEGDL-P-LNYTIVNNKSQCESL1387
SCN1AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<FYHCINTTTGDR---FDIEDVNNHTDCLKL1399
SCN2AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<FYHCINYTTGEM---FDVSVVNNYSECKAL1389
SCN3AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<FYHCVNMTTGNM---FDISDVNNLSDCQAL1387
SCN4AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<FYYCINTTTSER---FDISEVNNKSECESL1212
SCN7AKTTLPTLNVFLVCLMIWLIFSIMGVDLFAG>R<FYECIDPTSGER---FPSSEVMNKSRCESL1110
SCN8AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<YHYCFNETSEIR---FEIEDVNNKTECEKL1379
SCN9AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<FYECINTTDGSR---FPASQVPNRSECFAL1362
SCN10AGAIPSIMNVLLVCLIFWLIFSIMGVNLFAG>K<FWRCINYTDGEF-SLVPLSIVNNKSDCKIQ1335
SCN11AGAIPAILNVLLVCLIFWLVFCILGVYFFSG>K<FGKCINGTDSVI----NYTIITNKSQCESG1229
CACNA1ANSLKNVFNILIVYMLFMFIFAVVAVQLFKG>K<FFHCTDESKEFEKDCRGKYLLYEKNEVK--1430
CACNA1BNSLKNVLNILIVYMLFMFIFAVIAVQLFKG>K<FFYCTDESKELERDCRGQYLDYEKEEVE--1336
CACNA1CVAIRTIGNIVIVTTLLQFMFACIGVQLFKG>K<LYTCSDSSKQTEAECKGNYITYKDGEVDHP1084
CACNA1DVAIRTIGNIMIVTTLLQFMFACIGVQLFKG>K<FYRCTDEAKSNPEECRGLFILYKDGDVDSP1090
CACNA1ETSLKNVFNILIVYKLFMFIFAVIAVQLFKG>K<FFYCTDSSKDTEKECIGNYVDHEKNKME--1342
CACNA1FVAIRTIGNIMIVTTLLQFMFACIGVQLFKG>K<FYTCTDEAKHTPQECKGSFLVYPDGDVSRP1055
CACNA1GSSLKPIGNIVVICCAFFIIFGILGVQLFKG>K<FFVCQGED---------TRNITNKSDCA--1456
CACNA1HSSLRPIGNIVLICCAFFIIFGILGVQLFKG>K<FYYCEGPD---------TRNISTKAQCR--1474
CACNA1ISSLKPIGNIVLICCAFFIIFGILGVQLFKG>K<FYHCLGVD---------TRNITNRSDCM--1350
CACNA1SVAISTIGNIVLVTTLLQFMFACIGVQLFKG>K<FFRCTDLSKMTEEECRGYYYVYKDGDPMQI983
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.K1359Nc.4077G>T Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
p.K1359Mc.4076A>T Putative BenignSIFT:
Polyphen: